SNP Shot: Genomic Insights

Winchester syndrome is a uncommon genetic disorder marked by osteolysis, or the breakdown of bone, predominantly in the hands and feet. Initially classified as a variant of multicentric osteolysis, nodulosis, and arthropathy (MONA), Winchester syndrome is now recognized as a distinct disease due to differing genetic causes.

Typically, individuals with Winchester syndrome experience initial bone loss in their hands and feet, leading to pain and restricted movement. This bone degradation progresses to other areas of the body, causing joint issues (arthropathy) in areas like the elbows, shoulders, knees, hips, and spine. Osteopenia (reduced bone mineral density) and osteoporosis (bone thinning) are common, increasing fracture risk and contributing to short stature.

Skin abnormalities, such as darkened, thickened patches, can also occur. Additional symptoms may include corneal opacity (clouding of the cornea), hypertrichosis (excessive hair growth), gum overgrowth, heart defects, and characteristic "coarse" facial features.

Inheritance:

Winchester syndrome follows an autosomal recessive inheritance pattern. This means an affected individual must inherit two copies of the mutated gene, one from each parent. Parents who each carry only one copy of the gene typically don't display any symptoms of the disorder.